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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S. Hammarsjö A, et al. Among authors: gowrishankar k. Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1. Sci Rep. 2017. PMID: 29138412 Free PMC article.
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: gowrishankar k. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.
Pradeep I, Gowrishankar K, Shanmugasundaram L. Pradeep I, et al. Among authors: gowrishankar k. Pediatr Dev Pathol. 2022 May-Jun;25(3):327-329. doi: 10.1177/10935266211065316. Epub 2021 Dec 27. Pediatr Dev Pathol. 2022. PMID: 34961372
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S. Guo L, et al. Among authors: gowrishankar k. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8. Nat Commun. 2021. PMID: 33824347 Free PMC article.
70 results